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61 records found for search term Nudt2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
152981996CV1678937deletionNUDT2, 1-BP DEL, 186AIntellectual developmental disorder with or without peripheral neuropathy [RCV002248319]pathogenicHumanname
150451842CV1220915single nucleotide variantNM_001161.5(NUDT2):c.-17+48C>Gnot provided [RCV001612009]benign93433889534338895Humanname
150433345CV1230495single nucleotide variantNM_001161.5(NUDT2):c.128-192G>Anot provided [RCV001643440]benign93434293234342932Humanname
617150021CV4021604single nucleotide variantNM_001161.5(NUDT2):c.237A>G (p.Glu79=)not provided [RCV005425573]likely benign93434323334343233Humanname
152981995CV1678936single nucleotide variantNM_001161.5(NUDT2):c.34C>T (p.Arg12Ter)Intellectual developmental disorder with or without peripheral neuropathy [RCV002248318]pathogenic|likely pathogenic93433907334339073Human1name
401897212CV2789908single nucleotide variantNM_001161.5(NUDT2):c.68C>T (p.Ala23Val)not specified [RCV004362288]uncertain significance93433910734339107Humanname
598233940CV3995117single nucleotide variantNM_001161.5(NUDT2):c.61A>C (p.Asn21His)not specified [RCV005381792]uncertain significance93433910034339100Humanname
14978210CV677336deletionNM_001161.5(NUDT2):c.186del (p.Ala63fs)Complex neurodevelopmental disorder [RCV002225120]|Intellectual developmental disorder with or without peripheral neuropathy [RCV002251755]|Intellectual disability [RCV001533201]|NUDT2-associated condition [RCV000850407]|not provided [RCV001655608]pathogenic|likely pathogenic93434318134343181Human4name , trait
156144349CV2200151single nucleotide variantNM_001161.5(NUDT2):c.280T>C (p.Trp94Arg)not specified [RCV004069722]uncertain significance93434327634343276Humanname
243057580CV2419790single nucleotide variantNM_001161.5(NUDT2):c.174G>T (p.Glu58Asp)Intellectual developmental disorder with or without peripheral neuropathy [RCV003156721]pathogenic|likely pathogenic93434317034343170Human1name
401896856CV2788877single nucleotide variantNM_001161.5(NUDT2):c.289G>C (p.Glu97Gln)not specified [RCV004362918]uncertain significance93434328534343285Humanname
596947875CV3547462single nucleotide variantNM_001161.5(NUDT2):c.191G>T (p.Gly64Val)not provided [RCV004811766]uncertain significance93434318734343187Humanname
597709961CV3573585single nucleotide variantNM_001161.5(NUDT2):c.214A>G (p.Ile72Val)not specified [RCV004840734]uncertain significance93434321034343210Humanname
598233946CV3995119single nucleotide variantNM_001161.5(NUDT2):c.287C>T (p.Ala96Val)not specified [RCV005381793]uncertain significance93434328334343283Humanname
598265716CV3995120single nucleotide variantNM_001161.5(NUDT2):c.297G>C (p.Lys99Asn)not specified [RCV005387992]uncertain significance93434329334343293Humanname
156054004CV2192585single nucleotide variantNM_001161.5(NUDT2):c.343C>T (p.Arg115Cys)not provided [RCV003037011]uncertain significance93434333934343339Humanname
156248751CV2192655single nucleotide variantNM_001161.5(NUDT2):c.307G>A (p.Val103Met)not provided [RCV003059943]uncertain significance93434330334343303Humanname
156180968CV2298500single nucleotide variantNM_001161.5(NUDT2):c.440C>T (p.Ala147Val)not specified [RCV004162164]uncertain significance93434343634343436Humanname
407477545CV3462301single nucleotide variantNM_001161.5(NUDT2):c.317G>C (p.Arg106Pro)not specified [RCV004638831]uncertain significance93434331334343313Humanname
408379644CV3500794single nucleotide variantNM_001161.5(NUDT2):c.372G>C (p.Gln124His)not provided [RCV004722444]likely benign93434336834343368Humanname
598265709CV3995118single nucleotide variantNM_001161.5(NUDT2):c.344G>A (p.Arg115His)not specified [RCV005387991]uncertain significance93434334034343340Humanname
329951753CV2671409microsatelliteNM_001161.5(NUDT2):c.407AAG[1] (p.Glu137del)Intellectual developmental disorder with or without peripheral neuropathy [RCV003236621]uncertain significance93434340334343405Humanname
405729571CV3355907single nucleotide variantNM_007006.3(NUDT21):c.43C>T (p.Arg15Trp)not specified [RCV004496203]uncertain significance165645116056451160Humanname
405729600CV3355910single nucleotide variantNM_032344.4(NUDT22):c.40G>A (p.Gly14Arg)not specified [RCV004496206]uncertain significance116422669264226692Humanname
407521794CV3462307single nucleotide variantNM_032344.4(NUDT22):c.41G>A (p.Gly14Glu)not specified [RCV004652645]uncertain significance116422669364226693Humanname
597709988CV3573588single nucleotide variantNM_032344.4(NUDT22):c.41G>T (p.Gly14Val)not specified [RCV004840737]uncertain significance116422669364226693Humanname
598265721CV3995122single nucleotide variantNM_032344.4(NUDT22):c.91C>T (p.Arg31Cys)not specified [RCV005387993]uncertain significance116422674364226743Humanname
15169416CV740260single nucleotide variantNM_007006.3(NUDT21):c.592T>C (p.Leu198=)not provided [RCV000905053]benign165643440156434401Humanname
15199544CV755251single nucleotide variantNM_007006.3(NUDT21):c.639T>C (p.Ser213=)not provided [RCV000912580]benign165643435456434354Humanname
155919111CV2202389single nucleotide variantNM_032344.4(NUDT22):c.263G>A (p.Arg88Gln)not specified [RCV004080704]uncertain significance116422691564226915Humanname
155940679CV2232184single nucleotide variantNM_032344.4(NUDT22):c.289A>G (p.Ser97Gly)not specified [RCV004104983]uncertain significance116422694164226941Humanname
156010553CV2362139single nucleotide variantNM_032344.4(NUDT22):c.203T>A (p.Leu68Gln)not provided [RCV004695696]|not specified [RCV004209942]uncertain significance116422685564226855Humanname
401898415CV2787879single nucleotide variantNM_032344.4(NUDT22):c.239T>C (p.Leu80Pro)not specified [RCV004358557]uncertain significance116422689164226891Humanname
405729582CV3355908single nucleotide variantNM_032344.4(NUDT22):c.107G>A (p.Gly36Asp)not specified [RCV004496204]uncertain significance116422675964226759Humanname
405729592CV3355909single nucleotide variantNM_032344.4(NUDT22):c.175C>T (p.Pro59Ser)not specified [RCV004496205]uncertain significance116422682764226827Humanname
156273528CV2202514single nucleotide variantNM_032344.4(NUDT22):c.653G>A (p.Arg218Gln)not specified [RCV004080810]uncertain significance116422932064229320Humanname
156331356CV2218148single nucleotide variantNM_032344.4(NUDT22):c.653G>C (p.Arg218Pro)not specified [RCV004086572]uncertain significance116422932064229320Humanname
156381280CV2218697single nucleotide variantNM_032344.4(NUDT22):c.529C>G (p.Leu177Val)not specified [RCV004084630]uncertain significance116422761664227616Humanname
156340605CV2268147single nucleotide variantNM_032344.4(NUDT22):c.621G>C (p.Leu207Phe)not specified [RCV004138466]uncertain significance116422928864229288Humanname
155956815CV2304077single nucleotide variantNM_007006.3(NUDT21):c.443G>C (p.Trp148Ser)not specified [RCV004170120]uncertain significance165643968556439685Humanname
329357395CV2427702single nucleotide variantNM_032344.4(NUDT22):c.705G>C (p.Arg235Ser)not specified [RCV004252487]uncertain significance116422950564229505Humanname
329377917CV2436077single nucleotide variantNM_032344.4(NUDT22):c.457C>T (p.Pro153Ser)not specified [RCV004255294]uncertain significance116422710964227109Humanname
401738460CV2676293single nucleotide variantNM_032344.4(NUDT22):c.325G>A (p.Asp109Asn)not specified [RCV004286330]likely benign116422697764226977Humanname
401721696CV2680634single nucleotide variantNM_032344.4(NUDT22):c.331G>A (p.Gly111Ser)not specified [RCV004291253]uncertain significance116422698364226983Humanname
405729617CV3355912single nucleotide variantNM_032344.4(NUDT22):c.454G>A (p.Val152Ile)not specified [RCV004496208]uncertain significance116422710664227106Humanname
405729626CV3355913single nucleotide variantNM_032344.4(NUDT22):c.661G>A (p.Ala221Thr)not specified [RCV004496209]uncertain significance116422932864229328Humanname
405729632CV3355914single nucleotide variantNM_032344.4(NUDT22):c.715C>A (p.Leu239Met)not specified [RCV004496210]likely benign116422951564229515Humanname
407477551CV3462302single nucleotide variantNM_032344.4(NUDT22):c.632G>A (p.Arg211Gln)not specified [RCV004638832]uncertain significance116422929964229299Humanname
407477557CV3462303single nucleotide variantNM_032344.4(NUDT22):c.669C>G (p.Phe223Leu)not specified [RCV004638833]uncertain significance116422933664229336Humanname
407521787CV3462304single nucleotide variantNM_032344.4(NUDT22):c.457C>A (p.Pro153Thr)not specified [RCV004652643]uncertain significance116422710964227109Humanname
407477563CV3462305single nucleotide variantNM_032344.4(NUDT22):c.383C>A (p.Ala128Asp)not specified [RCV004638834]uncertain significance116422703564227035Humanname
407521791CV3462306single nucleotide variantNM_032344.4(NUDT22):c.568A>T (p.Ile190Phe)not specified [RCV004652644]uncertain significance116422765564227655Humanname
407521797CV3462308single nucleotide variantNM_032344.4(NUDT22):c.520G>A (p.Ala174Thr)not specified [RCV004652646]uncertain significance116422760764227607Humanname
407521800CV3462309single nucleotide variantNM_032344.4(NUDT22):c.458C>G (p.Pro153Arg)not specified [RCV004652647]uncertain significance116422711064227110Humanname
597709970CV3573586single nucleotide variantNM_007006.3(NUDT21):c.497C>T (p.Thr166Ile)not specified [RCV004840735]uncertain significance165643480456434804Humanname
597709979CV3573587single nucleotide variantNM_032344.4(NUDT22):c.700G>A (p.Val234Met)not specified [RCV004840736]uncertain significance116422950064229500Humanname
597709995CV3573589single nucleotide variantNM_032344.4(NUDT22):c.863G>T (p.Ser288Ile)not specified [RCV004840738]uncertain significance116422994164229941Humanname
597643750CV3573590single nucleotide variantNM_032344.4(NUDT22):c.422G>A (p.Arg141Gln)not specified [RCV004832658]likely benign116422707464227074Humanname
598233952CV3995121single nucleotide variantNM_007006.3(NUDT21):c.382A>G (p.Ile128Val)not specified [RCV005381794]uncertain significance165643974656439746Humanname
598233959CV3995123single nucleotide variantNM_032344.4(NUDT22):c.628G>A (p.Ala210Thr)not specified [RCV005381795]uncertain significance116422929564229295Humanname
8634269CV89489single nucleotide variantNM_001128612.2(NUDT22):c.820T>C (p.Ser274Pro)Malignant melanoma [RCV000069586]not provided116422989864229898Humanname